rs779748859
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs779748859(C;T) |
Make rs779748859(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | X |
Position | 108187279 |
Gene | COL4A6 |
is a | snp |
is | mentioned by |
dbSNP | rs779748859 |
dbSNP (classic) | rs779748859 |
ClinGen | rs779748859 |
ebi | rs779748859 |
HLI | rs779748859 |
Exac | rs779748859 |
Gnomad | rs779748859 |
Varsome | rs779748859 |
LitVar | rs779748859 |
Map | rs779748859 |
PheGenI | rs779748859 |
Biobank | rs779748859 |
1000 genomes | rs779748859 |
hgdp | rs779748859 |
ensembl | rs779748859 |
geneview | rs779748859 |
scholar | rs779748859 |
rs779748859 | |
pharmgkb | rs779748859 |
gwascentral | rs779748859 |
openSNP | rs779748859 |
23andMe | rs779748859 |
SNPshot | rs779748859 |
SNPdbe | rs779748859 |
MSV3d | rs779748859 |
GWAS Ctlg | rs779748859 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779748859(T;T) |
Alt | rs779748859(T;T) |
Reference | Rs779748859(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | COL4A6 |
CLNDBN | Deafness, X-linked 6 |
Reversed | 0 |
HGVS | NC_000023.10:g.107430509C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000088659.2, |